Article
Mutation update: the spectra of nebulin variants and associated myopathies.
Human mutation - 1 Dec 2014
Lehtokari Vilma-Lotta, Kiiski Kirsi, Sandaradura Sarah A, Laporte Jocelyn, Repo Pauliina, Frey Jennifer A, Donner Kati, Marttila Minttu, Saunders Carol, Barth Peter G, den Dunnen Johan T, Beggs Alan H, Clarke Nigel F, North Kathryn N, Laing Nigel G, Romero Norma B, Winder Thomas L, Pelin Katarina, Wallgren-Pettersson Carina
Abstract excerpt
A mutation update on the nebulin gene (NEB) is necessary because of recent developments in analysis methodology, the identification of increasing numbers and novel types of variants, and a widening in the spectrum of clinical and histological phenotypes associated with this gigantic, 183 exons containing gene. Recessive pathogenic variants in NEB are the major cause of nemaline myopathy (NM), one of the most...
Topics
- Alternative Splicing
- Animals
- Chromosomes, Human, Pair 2
- Databases, Genetic
- Exons
- Genotype
- Humans
- Models, Animal
- Muscle Proteins
- Muscular Diseases